Jean‐Michel Rozet

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

The paper identifies a regulatory variant driving microphthalmia by analyzing its effects in mouse models and linking it to FOXE3 expression and ocular development.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

The paper models a critical MCOR-causing deletion in mice, revealing aberrant Sox21 expression and implicating Tgfb2 in MCOR-associated glaucoma and myopia.

This study shows that Taprenepag, a PGE2 receptor agonist, improves cilia formation and light sensitivity in CEP290-deficient models by stimulating cAMP synthesis.

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.